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Article

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal of medical genetics - 1 Aug 2014

Futema Marta, Plagnol Vincent, Li KaWah, Whittall Ros A, Neil H Andrew W, Seed Mary, Bertolini Stefano, Calandra Sebastiano, Descamps Olivier S, Graham Colin A, Hegele Robert A, Karpe Fredrik, Durst Ronen, Leitersdorf Eran, Lench Nicholas, Nair Devaki R, Soran Handrean, Van Bockxmeer Frank M, Humphries Steve E

Abstract excerpt

BACKGROUND: Familial hypercholesterolaemia (FH) is an autosomal dominant disease of lipid metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and PCSK9 can be detected in 80% of definite FH (DFH) patients. This study aimed to identify novel FH-causing genetic variants in patients with no detectable mutation. METHODS AND RESULTS: Exomes of 125 unrelated DFH patients were sequenced, as...

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Share to Apolipoproteins B
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hyperlipoproteinemia Type II

Share to Proprotein Convertase 9

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Source

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Identifiers

PMID: 24987033
DOI: 10.1136/jmedgenet-2014-102405
PMCID: PMC4112429

Genes

APOB
LDLR
PCSK9
INSIG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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